Lillian Y. F. Hsu

Trisomy 22: a clinical entity.

The constellation of a characteristic facies, mental retardation, growth retardation,microcephaly, micrognathia, preauricular skin tags, appendages and sinuses, low-set and/or malformed ears, congenital heart disease, cleft palate, deformed lower extremities, finger-like malopposed thumbs, cubitus valgus, and abnormal and/or low-set nipples, in association with an extra small acrocentric chromosome, has been described in 3 patients. Each of the mothers had difficulty in conceiving; one was mosaic for trisomy 22. Autoradiographic studies done on 2 of the 3 patients showed the extra small acrocentric chromosome to be early replicating, suggesting that it is a number 22. On the basis of the phenotypic and cytogenetic findings in these and 10 similar patients previously reported, and in conjunction with the autoradiographic results, it is proposed that trisomy 22 is a distinct clinical entity.

Cytogenetics of Fetal Wastage

A consecutive series of 50 couples with a histroy of fetal wastage were studied cytogenetically with current banding technics. Fetal wastage was defined as occurring in couples who had more than two early abortions, stillbirth(s) or livebirths(s) or both of infants with multiple congenital anomalies. Three women were found to be balanced reciprocal translocation carriers; all translocations were not detectable by the conventional method but were demonstrable by current banding technics. In addition to the translocation carriers, one woman was found to be a mosaic for 45,X/46,XX/47,XXX. Four of the parents showed increased mitotic instability or chromosome breakage and rearrangement, or both. Parental chromosome abnormalities may therefore account for fetal wastage in between 6 and 16 per cent (or about one in 10) of couples having such a history. Such couples, if identified, can potentially benefit by prenatal monitoring of future pregnancies.

The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate: report of a family demonstrating a dominant inheritance pattern

The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip and palate (EEC syndrome) is described in a mother and 3 of her 4 children. Autosomal dominant inheritance was suggested in this family. However, genetic heterogeneity may exist in this syndrome. The significance of associated finClings, incluCling carcinoma of the cervix uteri, lacrimal duct stenosis and urinary tract strictures in patients with ectodermal dysplasia is considered.

Prenatal diagnosis of 45,X/46,XY mosaicism with postnatal confirmation in a phenotypically normal male infant

Prenatal detection of chromosome mosaicism has always been a diagnostic dilemma. In 21 reported cases of chromosomal mosaicism in cultured amniotic fluid cells, only two cases had cytogenetic confirmation of the mosaicism. All 21 pregnancies resulted in either phenotypically normal liveborns or grossly normal abortuses. We report a case of XO/XY mosaicism detected prenatally and confirmed postnatally in a grossly normal male infant. The indication for prenatal cytogenetic diagnosis was advanced maternal age (38 years). A diagnosis of XO/XY mosaicism was made from two separate culture flasks of amniotic fluid cells, with 45,X cells predominating (86.4 %). The Y chromosome was of normal size but carried no fluorescent band. The parents were counseled and were advised that the phenotype of XO/XY mosaicism can range from relative normality to sexual maldevelopment. They decided to continue this pregnancy. The infant was born at term and was a grossly normal male with normal penis and descended, normal‐sized testes. Leukocyte culture from the cord blood and a skin fibroblast culture confirmed the mosaicism of XO/XY. The fathers Y chromosome was of identical size and carried a small fluorescent band. It appears that an altered Y chromosome may be predisposed to anaphase lag leading to mosaicism.

Partial deletion of long arm of chromosome 11: del (11) (q23)

The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46, XX, del(11)(q23). The main clinical manifestations included: ocular colobomata, absent philtrum, severe congenital heart disease, contractures of the large joints and skin pigmentation.

Familial chromosomal mosaicism, genetic aspects

1. The proband, AD 140121 (i.e. B.D. 14 January 1921) (Chicago Conference, 1966) is a 47-year-old Portuguese woman who presented with primary amenorrhoea, absence of secondary sex characteristics, and tall stature. The parents are second cousins and produced six sons (one of whom died in infancy and three daughters). There ww no history of miscarriage or stillbirth. A right ovarian tumour was resected from the proposita 14 years ago. Physical examination revealed a maaive masculine appearing female (Pl. IA), 6 ft. 3 in. in height and 235 Ib. in weight. There was no breast development. Pubic and axillary hair were sparse. There was a normal clitoris, poorly developed labia and an immature vagina. Laparotomy revealed an infantile uterus, and a streak gonad on the left side consisted partly of ovarian stroma and partly of tubular structures with no primordial follicles. On the right side fibrous tissue was noted in the region of the resection of the gonadal neoplasm. Dermatoglyphics showed bilateral distally located axial triradii at t position and bilateral hypothenar patterns with a radial loop on the right and an S-shaped loop on the left. The total finger ridge count was 152. Cytogenetic studies : Buccal smears were sex-chromatin negative. Chromosome studies were done from cultures of peripheral leukocytes, fibrous tissue from the area of the previously excised right gonadal tumour and the streak gonad on the left side (Table I). In all three cultures, mosaicism of 45, X/46, XY/47, X Y Y was found with a predominance of X Y in the blood and the fibrous tissue from the right side, but a predominance of 45, X in the streak gonad taken from the left (karyotypes as shown in PI. 2A, B, C.) 2. A sister, MM 061224, age 43, presented an identical picture to the proband except for spontaneous development of small breasts and pubic hair in the preoeding 3 years. Physical examination revealed a heavy set woman of eunuchoid habitus, 5 ft. 8 in. in height, 200 lb. in weight (Pl. 1 B). There were small breasts, sparse axillary hair and female distribution of pubic hair. There was a normal clitoris, vagina and cervix. A large cystic mobile mass waa palpated in the left pelvic area. Laparotomy revealed an infantile uterus, a streak gonad on the right side and a 16 x 20 cm. cystic neoplasm with a partially calcified solid component arising from a left streak gonad. * K.H. is a Career Scientist of Health Researoh Council of the City of New York (1-613).

Prenatal diagnosis of genetic disease

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A partial long arm deletion of chromosome 7:46,XY,del(7)(q32).

We have identified a partial deletion of the long arm of chromosome 7 in a newborn baby boy. His major anomalies were microcephaly, synbrachydactyly, diastisis recti, hypospadias, short neck, and widely spaced nipples.

Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

A newborn infant with clinical and pathological findings typical trisomy 13 and 22 syndromes had an extra chromosome which was a derivative chromosome from maternal balanced translocation affecting Nos. 13 and 22; 47,XY,+der(22),t(13:22)(q22:q12)Mat. The presence of extra specific euchromatic regions of No. 13(13q22 and/or 13q34) and No. 22 (22q11) seem to be responsible for the trisomy 13 and 22 syndromes.

Trisomy D in Bone Marrow Cells in a Patient with Chronic Myelogenous Leukemia

A female patient with chronic myelogenous leukemia was found to have 47, XX, + D in 100% of her bone marrow cells. There was no Ph1 chromosome. Fluorescent staining showed that the extra D